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Article

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

American journal of medical genetics. Part A - 1 Dec 2015

Ahrens-Nicklas Rebecca C, Reichert Sara L, Zackai Elaine H, Kaplan Paige B

Abstract excerpt

Williams-Beuren Syndrome (WBS) is a well-described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, short stature, and specific intellectual disabilities (such as visual spatial problems). WBS is caused by 7q11.23 deletions that contain multiple genes known to...

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PMID: 26271350
DOI: 10.1002/ajmg.a.37288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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